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Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6

Leber hereditary optic neuropathy (LHON) typically presents as painless central or centrocecal scotoma and is due to maternally inherited mitochondrial DNA (mtDNA) mutations. Over 95% of LHON cases are caused by one of three mtDNA “common” point mutations; m.3460G>A, m.11778G>A, or m.14484T>...

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Foilsithe in:J Neurol
Main Authors: Berardo, Andres, Emmanuele, Valentina, Vargas, Wendy, Tanji, Kurenai, Naini, Ali, Hirano, Michio
Formáid: Artigo
Teanga:Inglês
Foilsithe: 2019
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7362294/
https://ncbi.nlm.nih.gov/pubmed/31776719
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-019-09619-z
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